Variant report

Variant	rs11235862
Chromosome Location	chr11:73406483-73406484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10793065	0.82[AMR][1000 genomes]
rs10793066	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10898930	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898931	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10898935	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10898936	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11235861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235876	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235883	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11235884	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11602887	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12420357	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12788229	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12788426	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1404976	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1614987	0.82[EUR][1000 genomes]
rs1723848	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1792166	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1792174	0.80[EUR][1000 genomes]
rs2140893	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2367187	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2367188	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511261	0.82[EUR][1000 genomes]
rs2886816	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7104603	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7119055	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7925514	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7933372	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7938731	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs868667	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9705336	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv390	chr11:73388188-73432899	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11235862	MRPL48	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73374400-73427200	Weak transcription	A549	lung
2	chr11:73375800-73416200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:73382200-73436000	Weak transcription	Small Intestine	intestine
4	chr11:73382200-73441200	Weak transcription	Stomach Mucosa	stomach
5	chr11:73382400-73421600	Weak transcription	Gastric	stomach
6	chr11:73383400-73427200	Weak transcription	Fetal Heart	heart
7	chr11:73384000-73427600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:73385000-73449800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:73385800-73411400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:73387400-73410800	Weak transcription	Colonic Mucosa	Colon
11	chr11:73389000-73445400	Weak transcription	Fetal Brain Male	brain
12	chr11:73389200-73410600	Weak transcription	Brain Angular Gyrus	brain
13	chr11:73389200-73416800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr11:73389200-73427400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:73389200-73440200	Weak transcription	Right Ventricle	heart
16	chr11:73390800-73429600	Weak transcription	NHLF	lung
17	chr11:73391000-73433600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:73392200-73411400	Weak transcription	Fetal Lung	lung
19	chr11:73394400-73430200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:73395600-73416200	Weak transcription	Brain Anterior Caudate	brain
21	chr11:73395800-73412600	Weak transcription	Thymus	Thymus
22	chr11:73396000-73410200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:73396000-73411800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:73396000-73448000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr11:73396200-73409600	Weak transcription	NHDF-Ad	bronchial
26	chr11:73396400-73408000	Weak transcription	HSMMtube	muscle
27	chr11:73396400-73411400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:73397800-73410200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:73397800-73426600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:73398200-73408600	Strong transcription	Fetal Stomach	stomach
31	chr11:73399000-73412400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:73399600-73412400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:73399800-73410600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:73400000-73416200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:73400200-73414600	Weak transcription	Ovary	ovary
36	chr11:73400400-73449400	Weak transcription	Psoas Muscle	Psoas
37	chr11:73400600-73410000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr11:73400600-73410000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr11:73400600-73410400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:73400600-73410600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr11:73400600-73410800	Weak transcription	Adipose Nuclei	Adipose
42	chr11:73400600-73412600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:73400600-73412800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:73400600-73412800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:73400600-73412800	Weak transcription	Aorta	Aorta
46	chr11:73400600-73421600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr11:73400800-73410000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:73400800-73410200	Weak transcription	Fetal Thymus	thymus
49	chr11:73400800-73410600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr11:73400800-73412200	Weak transcription	Rectal Mucosa Donor 31	rectum

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